Canonical Allele Identifier: CA2578997858
Gene: CAV1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.116525216C>G , CM000669.2:g.116525216C>G GRCh38
NC_000007.13:g.116165270C>G , CM000669.1:g.116165270C>G GRCh37
NC_000007.12:g.115952506C>G NCBI36
NG_012051.1:g.5432C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000341049.7:c.30+124C>G MANE Select ENSP00000339191.2:n.30+124C>G
ENST00000614113.5:c.30+124C>G ENSP00000479447.2:n.30+124C>G
ENST00000341049.6:c.30+124C>G ENSP00000339191.2:n.30+124C>G
ENST00000393470.1:c.30+124C>G ENSP00000377113.1:n.30+124C>G
ENST00000451122.5:c.154C>G ENSP00000409541.1:p.Leu52Val
ENST00000489856.1:n.81+124C>G
ENST00000614113.4:c.-653C>G ENSP00000479447.1:n.-653C>G
NM_001172895.1:c.-653C>G NP_001166366.1:n.-653C>G
NM_001753.4:c.30+124C>G NP_001744.2:n.30+124C>G
NM_001753.5:c.30+124C>G MANE Select NP_001744.2:n.30+124C>G